Genetic variability in CHMP2B and frontotemporal dementia

Parastoo Momeni; Ekaterina Rogaeva; Vivianna Van Deerlin; Wuxing Yuan; Jordan Grafman; Michael Tierney; Edward Huey; Jason Bell; Chris M. Morris; Rajesh N. Kalaria; Susan J. Van Rensburg; Dana Niehaus; Felix Potocnik; Toshitaka Kawarai; Shabnam Salehi-Rad; Christine Sato; Peter St. George-Hyslop; John Hardy

doi:10.1159/000094771

Genetic variability in CHMP2B and frontotemporal dementia

Parastoo Momeni, Ekaterina Rogaeva, Vivianna Van Deerlin, Wuxing Yuan, Jordan Grafman, Michael Tierney, Edward Huey, Jason Bell, Chris M. Morris, Rajesh N. Kalaria, Susan J. Van Rensburg, Dana Niehaus, Felix Potocnik, Toshitaka Kawarai, Shabnam Salehi-Rad, Christine Sato, Peter St. George-Hyslop, John Hardy^*

^*Corresponding author for this work

Physical Medicine and Rehabilitation

Research output: Contribution to journal › Article › peer-review

42 Scopus citations

Abstract

A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives. The putative pathogenicity of CHMP2B mutations for dementia is discussed.

Original language	English (US)
Pages (from-to)	129-133
Number of pages	5
Journal	Neurodegenerative Diseases
Volume	3
Issue number	3
DOIs	https://doi.org/10.1159/000094771
State	Published - Sep 2006

Keywords

CHMP2B
Chromosome 3
Frontotemporal dementia
MAPT

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1159/000094771

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Momeni, P., Rogaeva, E., Van Deerlin, V., Yuan, W., Grafman, J., Tierney, M., Huey, E., Bell, J., Morris, C. M., Kalaria, R. N., Van Rensburg, S. J., Niehaus, D., Potocnik, F., Kawarai, T., Salehi-Rad, S., Sato, C., St. George-Hyslop, P., & Hardy, J. (2006). Genetic variability in CHMP2B and frontotemporal dementia. Neurodegenerative Diseases, 3(3), 129-133. https://doi.org/10.1159/000094771

Momeni, Parastoo ; Rogaeva, Ekaterina ; Van Deerlin, Vivianna ; Yuan, Wuxing ; Grafman, Jordan ; Tierney, Michael ; Huey, Edward ; Bell, Jason ; Morris, Chris M. ; Kalaria, Rajesh N. ; Van Rensburg, Susan J. ; Niehaus, Dana ; Potocnik, Felix ; Kawarai, Toshitaka ; Salehi-Rad, Shabnam ; Sato, Christine ; St. George-Hyslop, Peter ; Hardy, John. / Genetic variability in CHMP2B and frontotemporal dementia. In: Neurodegenerative Diseases. 2006 ; Vol. 3, No. 3. pp. 129-133.

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title = "Genetic variability in CHMP2B and frontotemporal dementia",

abstract = "A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives. The putative pathogenicity of CHMP2B mutations for dementia is discussed.",

keywords = "CHMP2B, Chromosome 3, Frontotemporal dementia, MAPT",

author = "Parastoo Momeni and Ekaterina Rogaeva and {Van Deerlin}, Vivianna and Wuxing Yuan and Jordan Grafman and Michael Tierney and Edward Huey and Jason Bell and Morris, {Chris M.} and Kalaria, {Rajesh N.} and {Van Rensburg}, {Susan J.} and Dana Niehaus and Felix Potocnik and Toshitaka Kawarai and Shabnam Salehi-Rad and Christine Sato and {St. George-Hyslop}, Peter and John Hardy",

year = "2006",

month = sep,

doi = "10.1159/000094771",

language = "English (US)",

volume = "3",

pages = "129--133",

journal = "Neurodegenerative Diseases",

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Momeni, P, Rogaeva, E, Van Deerlin, V, Yuan, W, Grafman, J, Tierney, M, Huey, E, Bell, J, Morris, CM, Kalaria, RN, Van Rensburg, SJ, Niehaus, D, Potocnik, F, Kawarai, T, Salehi-Rad, S, Sato, C, St. George-Hyslop, P & Hardy, J 2006, 'Genetic variability in CHMP2B and frontotemporal dementia', Neurodegenerative Diseases, vol. 3, no. 3, pp. 129-133. https://doi.org/10.1159/000094771

Genetic variability in CHMP2B and frontotemporal dementia. / Momeni, Parastoo; Rogaeva, Ekaterina; Van Deerlin, Vivianna; Yuan, Wuxing; Grafman, Jordan; Tierney, Michael; Huey, Edward; Bell, Jason; Morris, Chris M.; Kalaria, Rajesh N.; Van Rensburg, Susan J.; Niehaus, Dana; Potocnik, Felix; Kawarai, Toshitaka; Salehi-Rad, Shabnam; Sato, Christine; St. George-Hyslop, Peter; Hardy, John.

In: Neurodegenerative Diseases, Vol. 3, No. 3, 09.2006, p. 129-133.

Research output: Contribution to journal › Article › peer-review

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T1 - Genetic variability in CHMP2B and frontotemporal dementia

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AU - Rogaeva, Ekaterina

AU - Van Deerlin, Vivianna

AU - Yuan, Wuxing

AU - Grafman, Jordan

AU - Tierney, Michael

AU - Huey, Edward

AU - Bell, Jason

AU - Morris, Chris M.

AU - Kalaria, Rajesh N.

AU - Van Rensburg, Susan J.

AU - Niehaus, Dana

AU - Potocnik, Felix

AU - Kawarai, Toshitaka

AU - Salehi-Rad, Shabnam

AU - Sato, Christine

AU - St. George-Hyslop, Peter

AU - Hardy, John

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AB - A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives. The putative pathogenicity of CHMP2B mutations for dementia is discussed.

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SN - 1660-2854

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Genetic variability in CHMP2B and frontotemporal dementia

Abstract

Keywords

ASJC Scopus subject areas

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